TMC6

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TMC6
Identifikatori
AliasiTMC6
Vanjski ID-jeviOMIM: 605828 MGI: 1098686 HomoloGene: 5258 GeneCards: TMC6
Lokacija gena (čovjek)
Hromosom 17 (čovjek)
Hrom.Hromosom 17 (čovjek)[1]
Hromosom 17 (čovjek)
Genomska lokacija za TMC6
Genomska lokacija za TMC6
Bend17q25.3Početak78,107,397 bp[1]
Kraj78,132,407 bp[1]
Lokacija gena (miš)
Hromosom 11 (miš)
Hrom.Hromosom 11 (miš)[2]
Hromosom 11 (miš)
Genomska lokacija za TMC6
Genomska lokacija za TMC6
Bend11 E2|11 82.96 cMPočetak117,656,814 bp[2]
Kraj117,673,024 bp[2]
Ontologija gena
Molekularna funkcija GO:0001948, GO:0016582 protein binding
ion channel activity
mechanosensitive ion channel activity
Ćelijska komponenta citoplazma
integral component of membrane
Golđijev aparat
Jedarna membrana
Egzosom
endoplasmic reticulum membrane
Endoplazmatski retikulum
membrana
Ćelijska membrana
specific granule membrane
tertiary granule membrane
integral component of plasma membrane
Biološki proces ion transport
neutrophil degranulation
GO:0015915 transport
GO:0022610 biološki proces
ion transmembrane transport
transmembrane transport
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)
NM_001127198
NM_007267
NM_001321185
NM_001374593
NM_001374594

NM_001375353
NM_001375354
NM_001374596

NM_145439
NM_181321

RefSeq (bjelančevina)
NP_001120670
NP_001308114
NP_009198
NP_001361522
NP_001361523

NP_001362282
NP_001362283
NP_001361525

NP_663414

Lokacija (UCSC)Chr 17: 78.11 – 78.13 MbChr 11: 117.66 – 117.67 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Transmembranski kanaloliki protein 6 je protein koji je kod ljudi kodiran genom TMC6.[5][6] In vivo, TMC6 i njegov homolog TMC8, interreagiraju i čine kompleks sa transporterom cinka 1 (SLC30A1) i lokalizuju se uglavnom na endoplazmatski retikulum, ali i na jedarnu membranu i Golgijev aparat.[7]

Inaktivacijske mutacije u TMC6 ili TMC8 implicirane su kao genetički uzrok rijetkog kožnog poremećaja epidermodysplasia verruciformis,[7] koji se odlikuje abnormalnom osjetljivošću na ljudske papiloma viruse (HPV) kože, što rezultira rastom ljuskavih makula i papula, posebno na rukama i nogama.

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 805 aminokiselina, a molekulska težina 90.045 Da.[8]

Simboli
1020304050
MAQPLAFILDVPETPGDQGQGPSPYDESEVHDSFQQLIQEQSQCTAQEGL
ELQQREREVTGSSQQTLWRPEGTQSTATLRILASMPSRTIGRSRGAIISQ
YYNRTVQLRCRSSRPLLGNFVRSAWPSLRLYDLELDPTALEEEEKQSLLV
KELQSLAVAQRDHMLRGMPLSLAEKRSLREKSRTPRGKWRGQPGSGGVCS
CCGRLRYACVLALHSLGLALLSALQALMPWRYALKRIGGQFGSSVLSYFL
FLKTLLAFNALLLLLLVAFIMGPQVAFPPALPGPAPVCTGLELLTGAGCF
THTVMYYGHYSNATLNQPCGSPLDGSQCTPRVGGLPYNMPLAYLSTVGVS
FFITCITLVYSMAHSFGESYRVGSTSGIHAITVFCSWDYKVTQKRASRLQ
QDNIRTRLKELLAEWQLRHSPRSVCGRLRQAAVLGLVWLLCLGTALGCAV
AVHVFSEFMIQSPEAAGQEAVLLVLPLVVGLLNLGAPYLCRVLAALEPHD
SPVLEVYVAICRNLILKLAILGTLCYHWLGRRVGVLQGQCWEDFVGQELY
RFLVMDFVLMLLDTLFGELVWRIISEKKLKRRRKPEFDIARNVLELIYGQ
TLTWLGVLFSPLLPAVQIIKLLLVFYVKKTSLLANCQAPRRPWLASHMST
VFLTLLCFPAFLGAAVFLCYAVWQVKPSSTCGPFRTLDTMYEAGRVWVRH
LEAAGPRVSWLPWVHRYLMENTFFVFLVSALLLAVIYLNIQVVRGQRKVI
CLLKEQISNEGEDKIFLINKLHSIYERKEREERSRVGTTEEAAAPPALLT
DEQDA

Reference[uredi | uredi izvor]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000141524 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025572 - Ensembl, maj 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Ramoz N, Rueda LA, Bouadjar B, Montoya LS, Orth G, Favre M (Nov 2002). "Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis". Nat Genet. 32 (4): 579–81. doi:10.1038/ng1044. PMID 12426567. S2CID 20013445.
  6. ^ "Entrez Gene: TMC6 transmembrane channel-like 6".
  7. ^ a b Lazarczyk, M; C Pons; JA Mendoza; P Cassonnet; Y Jacob; M Favre (21. 1. 2008). "Regulation of cellular zinc balance as a potential mechanism of EVER-mediated protection against pathogenesis by cutaneous oncogenic human papillomaviruses". The Journal of Experimental Medicine. 205 (1): 35–42. doi:10.1084/jem.20071311. PMC 2234378. PMID 18158319.
  8. ^ "UniProt, Q7Z403". Pristupljeno 24. 6. 2021.

Dopunska literatura[uredi | uredi izvor]

Vanjski linkovi[uredi | uredi izvor]

Šablon:Metabolizam metala